Variant report

Variant	rs4236427
Chromosome Location	chr7:150108367-150108368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
2	chr7:150064680..150066248-chr7:150107792..150109656,2	K562	blood:
3	chr7:150102171..150104524-chr7:150108247..150110337,3	MCF-7	breast:
4	chr7:150059551..150061730-chr7:150106999..150109857,2	MCF-7	breast:
5	chr7:150066619..150068993-chr7:150107734..150110689,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REPIN1-1	chr7:150107248-150109558	NONHSAT124130

No data

Variant related genes	Relation type
ENSG00000214022	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000240449	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2030681	0.85[AMR][1000 genomes]
rs4540328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4725892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4725894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150103400-150112200	Weak transcription	Ovary	ovary
2	chr7:150103600-150110600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:150104000-150108600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:150104000-150111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:150104400-150109600	Weak transcription	Stomach Mucosa	stomach
6	chr7:150104400-150110600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:150104400-150112800	Weak transcription	Fetal Lung	lung
8	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
9	chr7:150104600-150109000	Strong transcription	Brain Germinal Matrix	brain
10	chr7:150104600-150109400	Weak transcription	Small Intestine	intestine
11	chr7:150104600-150112800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:150104600-150117800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:150104600-150118000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:150104600-150118000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:150104600-150118000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:150104600-150118200	Weak transcription	Placenta	Placenta
17	chr7:150104800-150108800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:150104800-150109400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:150104800-150109800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:150104800-150109800	Strong transcription	Fetal Brain Female	brain
21	chr7:150104800-150110200	Strong transcription	Fetal Stomach	stomach
22	chr7:150104800-150110200	Strong transcription	Gastric	stomach
23	chr7:150104800-150110800	Weak transcription	HepG2	liver
24	chr7:150104800-150111000	Strong transcription	Fetal Intestine Small	intestine
25	chr7:150105000-150108800	Strong transcription	Lung	lung
26	chr7:150105000-150109000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr7:150105000-150109400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:150105200-150109200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:150105400-150109600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:150105400-150110400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr7:150105600-150108600	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr7:150105600-150108600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:150105600-150109000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:150105600-150109200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:150105600-150109800	Strong transcription	Spleen	Spleen
36	chr7:150105600-150110000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:150105800-150108600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:150105800-150108800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:150105800-150108800	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:150105800-150109200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:150106000-150109000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:150106000-150109200	Strong transcription	Fetal Intestine Large	intestine
43	chr7:150106000-150109200	Strong transcription	Pancreas	Pancrea
44	chr7:150106000-150110000	Weak transcription	NHLF	lung
45	chr7:150106000-150110400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:150106200-150109600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:150106200-150110000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr7:150106200-150110000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:150106400-150109200	Strong transcription	Colonic Mucosa	Colon
50	chr7:150106400-150109600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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